MCID: TRC034
MIFTS: 26

Torch Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases categories
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Summaries for Torch Syndrome

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MalaCards based summary: Torch Syndrome is related to pseudo-torch syndrome and aicardi-goutieres syndrome. An important gene associated with Torch Syndrome is OCLN (occludin), and among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Cell adhesion molecules (CAMs). The compounds uridine and pseudouridine have been mentioned in the context of this disorder. Related mouse phenotypes are muscle and digestive/alimentary.

Aliases & Classifications for Torch Syndrome

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Torch Syndrome, Aliases & Descriptions:

Name: Torch Syndrome 42 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Related Diseases for Torch Syndrome

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Diseases in the Pseudo-Torch Syndrome family:

torch syndrome

Diseases related to Torch Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1pseudo-torch syndrome30.2COL4A1, DKC1, JAM3, OCLN
2aicardi-goutieres syndrome10.3
3intrauterine infections10.1
4dyskeratosis congenita autosomal dominant10.0DKC1, TERC
5dyskeratosis congenita10.0DKC1, TERC
6leukoplakia10.0DKC1, TERC
7fanconi's anemia10.0DKC1, TERC
8aplastic anemia9.8DKC1, TERC

Graphical network of diseases related to Torch Syndrome:



Diseases related to torch syndrome

Symptoms for Torch Syndrome

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Drugs & Therapeutics for Torch Syndrome

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Drug clinical trials:

Search ClinicalTrials for Torch Syndrome

Search NIH Clinical Center for Torch Syndrome

Genetic Tests for Torch Syndrome

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Anatomical Context for Torch Syndrome

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Animal Models for Torch Syndrome or affiliated genes

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Publications for Torch Syndrome

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Articles related to Torch Syndrome:

idTitleAuthorsYear
1
Anaesthetic Management of a Patient with Pseudo-TORCH Syndrome. (25207129)
2013
2
Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome). (12833411)
2003
3
Pseudo-TORCH syndrome or Baraitser-Reardon syndrome: diagnostic criteria. (11226724)
2001
4
TORCH syndrome. (7640200)
1995
5
TORCH syndrome and TORCH screening. (1972489)
1990
6
Charts: the TORCH syndrome revisited. (2922243)
1989
7
The TORCH syndrome: a clinical review. (2985660)
1985
8
The "torch syndrome. (177938)
1976

Variations for Torch Syndrome

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Expression for genes affiliated with Torch Syndrome

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Expression patterns in normal tissues for genes affiliated with Torch Syndrome

Search GEO for disease gene expression data for Torch Syndrome.

Pathways for genes affiliated with Torch Syndrome

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Pathways related to Torch Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.2JAM3, OCLN
29.2JAM3, OCLN
39.2OCLN, JAM3
49.2JAM3, OCLN
59.1COL4A1, JAM3
6
Show member pathways
9.1COL4A1, JAM3
7
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility60
Cytoskeleton remodeling Integrin outside in signaling60
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases60
Cell adhesion Tight junctions60
Development MAG dependent inhibition of neurite outgrowth60
9.1COL4A1, JAM3
8
Show member pathways
8.7COL4A1, JAM3, OCLN

Compounds for genes affiliated with Torch Syndrome

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Sources:
44Novoseek, 24HMDB, 11DrugBank
See all sources

Compounds related to Torch Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1uridine44 24 1111.3DKC1, TERC
2pseudouridine44 2410.2DKC1, TERC
3rrna449.0DKC1, TERC

GO Terms for genes affiliated with Torch Syndrome

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Cellular components related to Torch Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1tight junctionGO:0059239.2JAM3, OCLN

Biological processes related to Torch Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix organizationGO:0301989.1COL4A1, JAM3

Products for genes affiliated with Torch Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for Torch Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet